Genetic & Genomic MedicinemedRxivPreprint
Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort
Eloise C. Watson, Gordon Qian, Shyamsundar Ravishankar…·Carolyn M. Sue
The paper analyzes mitochondrial DNA variation in a healthy older cohort, identifies pathogenic variants, and proposes improved heteroplasmy thresholding to reduce false positives.
DOI 10.64898/2026.06.24.26356403